Canonical Allele Identifier: CA6280903

Gene: ANKK1

Linked Data

• dbSNP Id: rs771319801
• ExAC: 11:113269919 C / T
• gnomAD v2: 11-113269919-C-T
• gnomAD v4: 11-113399197-C-T
• MyVariant Identifiers: chr11:g.113269919C>T (hg19) ; chr11:g.113399197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399197C>T , CM000673.2:g.113399197C>T	GRCh38
NC_000011.9:g.113269919C>T , CM000673.1:g.113269919C>T	GRCh37
NC_000011.8:g.112775129C>T	NCBI36
NG_012976.1:g.16407C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.1228C>T MANE Select	ENSP00000306678.3:p.Leu410Phe
ENST00000303941.3:c.1228C>T	ENSP00000306678.3:p.Leu410Phe
NM_178510.1:c.1228C>T	NP_848605.1:p.Leu410Phe
XM_011542736.1:c.1261C>T	XP_011541038.1:p.Leu421Phe
XM_011542737.1:c.1231C>T	XP_011541039.1:p.Leu411Phe
XM_011542738.1:c.1039C>T	XP_011541040.1:p.Leu347Phe
XM_011542736.2:c.1261C>T	XP_011541038.1:p.Leu421Phe
XM_011542737.2:c.1231C>T	XP_011541039.1:p.Leu411Phe
XM_011542738.2:c.1039C>T	XP_011541040.1:p.Leu347Phe
XM_017017475.1:c.1258C>T	XP_016872964.1:p.Leu420Phe
NM_178510.2:c.1228C>T MANE Select	NP_848605.1:p.Leu410Phe